학술논문
'학술논문'
에서 검색결과 129건 | 목록
1~10
Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Gardner, Alison; Ritchie, Tarin; Kroes, Thessa; Scheffer, Ingrid E.; Barnier, Jean-Vianney; Rousseau, Véronique; Genevieve, David; Haushalter, Virginie; Piton, Amélie; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Academic Journal
van der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E.M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C.P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O’Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W.E.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Rogers, Alice; De Jong, Lucas; Waters, Wendy; Rawlings, Lesley H.; Simons, Keryn; Gao, Song; Soubrier, Julien; Kenyon, Rosalie; Lin, Ming; King, Rob; Lawrence, David M.; Muller, Peter; Leblanc, Shannon; McGregor, Lesley; Sallevelt, Suzanne C. E. H.; Liebelt, Jan; Hardy, Tristan S. E.; Fletcher, Janice M.; Scott, Hamish S.; Kulkarni, Abhi; Barnett, Christopher P.; Kassahn, Karin S.
Periodical
Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O’Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.
Nature Medicine; January 2023, Vol. 29 Issue: 1 p180-189, 10p
Periodical
Lunke, Sebastian; Bouffler, Sophie E.; Patel, Chirag V.; Sandaradura, Sarah A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew F.; Barnett, Christopher P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda R.; Scott, Hamish S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma R.; de Silva, Michelle G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole J.; Sikora, Tim; Semcesen, Liana N.; Stroud, David A.; Compton, Alison G.; Thorburn, David R.; Bell, Katrina M.; Sadedin, Simon; North, Kathryn N.; Christodoulou, John; Stark, Zornitza
Nature Medicine; 20230101, Issue: Preprints p1-11, 11p
Periodical
Kayumi, Sayaka; Pérez-Jurado, Luis A.; Palomares, María; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; García-Miñaúr, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P.A.; Sinnema, Margje; Stevens, Servi C.J.; Nicolai, Joost; Lesca, Gaetan; Lion-François, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2351-2366, 16p
Eldredge, Jessica A.; Couper, Michael R.; Barnett, Christopher P.; Rawlings, Lesley; Couper, Richard T.L.
In The Journal of Pediatrics June 2021 233:268-272
Periodical
Yıldız Bölükbaşı, Esra; Karolak, Justyna A.; Szafranski, Przemyslaw; Gambin, Tomasz; Matsika, Admire; McManus, Sam; Scott, Hamish S.; Arts, Peer; Ha, Thuong; Barnett, Christopher P.; Rodgers, Jonathan; Stankiewicz, Paweł
European Journal of Human Genetics: EJHG; October 2022, Vol. 30 Issue: 10 p1182-1186, 5p
Academic Journal
Omari, Taher I.; Benninga, Marc A.; Haslam, Ross R.; Barnett, Christopher P.; Davidson, Geoff P.; Dent, John
In The Journal of Pediatrics 1999 135(4):522-525
Academic Journal
Omari, Taher I.; Benninga, Marc A.; Barnett, Christopher P.; Haslam, Ross R.; Davidson, Geoff P.; Dent, John
In The Journal of Pediatrics 1999 135(4):517-521
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[AR] Barnett, Christopher P.
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